scholarly journals Neonatal Bartter syndrome: A case report from Northern India

2021 ◽  
pp. 10-14
Author(s):  
Astitva Singh ◽  
Nishant Sharma ◽  
Prachi Agarwal ◽  
Bolledu Swaroop Anand ◽  
Akshay Shukla
Keyword(s):  
Case Report ◽  
Genetic Disorder ◽  
Failure To Thrive ◽  
Bartter Syndrome ◽  
Thick Ascending Limb ◽  
Older Children ◽  
Northern India ◽  
Tubular System ◽  
Renal Tubular ◽  
Neonatal Bartter Syndrome

Abstract. Bartter Syndrome is a rare genetic disorder affecting the renal tubular system causing a decreased absorption of sodium and chloride in the thick ascending limb of the Henle loop. Most children present in infancy with complaints of polyuria, polydipsia, vomiting, constipation and failure to thrive while older children present with recurrent episodes of dehydration, muscle weakness and cramps. The present study aimed to demonstrate a case of Bartter syndrome presenting as acute gastroenteritis.

Type-5 Bartter syndrome presenting with metabolic seizure in adulthood

2021 ◽  
Vol 14 (2) ◽  
pp. e235349
Author(s):  
Aqeel Hussain ◽  
Mahendra Atlani ◽  
Abhishek Goyal ◽  
Alkesh Kumar Khurana
Keyword(s):  
Age Of Onset ◽  
Bartter Syndrome ◽  
Electrolyte Imbalance ◽  
Thick Ascending Limb ◽  
Calcium Sensing Receptor ◽  
Inherited Disorders ◽  
Calcium Sensing ◽  
Aged Woman ◽  
Middle Aged Woman ◽  
Renal Tubular

Bartter syndrome is a very rare and heterogeneous disease with variable age of onset and symptom severity. Genotypically they have inherited disorders of the thick ascending limb in the renal tubular system, which manifest phenotypically as electrolyte imbalance due to loss of sodium, chloride and potassium. Gain of function mutations in the calcium-sensing receptor has been described in some patients with Bartter’s syndrome (type-5 Bartter syndrome or autosomal dominant hypocalcaemia with Bartter syndrome) associated with hypocalcaemia and hypercalciuria differentiating it from Gitelman syndrome. This phenotype has been reported to present in adulthood with metabolic abnormalities. We present a case of a middle-aged woman who presented with metabolic seizures and on evaluation was found to have profound electrolyte abnormalities which were corrected with supplements and led to the resolution of symptoms.

scholarly journals Comparing Nephrolithiasis with Nephrocalcinosis in Children; A Study From Two Tertiary Centers in Saudi Arabia

2021 ◽  
Author(s):  
Khalid Alhasan ◽  
Mohamed Shalaby ◽  
Amr Albanna ◽  
Mohamad-Hani Temsah ◽  
Zainab Alhaik ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Kidney Disease ◽  
Clinical Outcomes ◽  
Chronic Kidney Disease Stage ◽  
Failure To Thrive ◽  
Bartter Syndrome ◽  
Disease Stage ◽  
Tubular Lumen ◽  
Renal Tubular ◽  
End Stage

Abstract Background: Nephrolithiasis and nephrocalcinosis is uncommon in children; however, its incidence is increasing. Patients and Methods: A multicenter retrospective study of the clinical presentation, etiology, and outcome of childhood nephrolithiasis and compare it with nephrocalcinosis.Results: The study included 144 children; 93 with nephrolithiasis (formation of stones within renal pelvis or tubular lumen) and 51 with nephrocalcinosis. (deposition of calcium in the renal parenchyma) Mean age at presentation were 72 months and 54 months for nephrolithiasis and nephrocalcinosis, respectively. In 64.8% of the nephrolithiasis and 76% of nephrocalcinosis cases, a history of consanguinity was found. Congenital anomalies of the kidneys and urinary tract were present in 28% and 9.8% of those with nephrolithiasis and nephrocalcinosis, respectively. The most common symptoms of nephrolithiasis were flank pain (29%), hematuria (15%), and dysuria (11%). Urinary tract infection was the primary presentation in the nephrocalcinosis group (18%) followed by failure to thrive (16%), polyuria (12%), and dehydration (12%).The majority of nephrolithiasis cases were caused by metabolic disorders. In contrast, the most common underlying disorders for nephrocalcinosis were familial hypomagnesemia hypercalciuria nephrocalcinosis (35%), distal renal tubular acidosis (23%), and Bartter syndrome (6%).Clinical outcomes were significantly better in children with nephrolithiasis than those with nephrocalcinosis who had radiological evidence of worsening/persistent calcinosis and progressed more frequently to chronic kidney disease (stage II-IV) and end stage kidney disease.Conclusion: The etiology of nephrolithiasis can be identified in many children. Nephrocalcinosis is associated with worse clinical outcomes related to kidney function and disease resolution as compared to nephrolithiasis.

PP-89. Neonatal Bartter syndrome: Case report

2010 ◽  
Vol 86 ◽  
pp. S53
Author(s):  
Neslihan Cicek Deniz ◽  
Turgut Agzıkuru ◽  
Yasemin Akın ◽  
Fatma Kaya Narter ◽  
Melek Kose
Keyword(s):  
Case Report ◽  
Bartter Syndrome ◽  
Neonatal Bartter Syndrome

scholarly journals A rare case report of unusual presentation of Edward’s syndrome (trisomy 18)

2018 ◽  
Vol 5 (4) ◽  
pp. 1685
Author(s):  
Meenakshi S. Kushwah ◽  
Ajay Gaur
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Rare Case ◽  
Genetic Disorder ◽  
Failure To Thrive ◽  
First Year ◽  
Extra Copy ◽  
Edwards Syndrome ◽  
Rare Case Report ◽  
First Year Of Life

Edwards syndrome, a rare genetic disorder is characterized by the extra copy of chromosome 18. About 50% babies with this syndrome do not survive one week of age and approx. 95% do not survive past the first year of life. The syndrome is usually characterized by dysmorphic facies, microcephaly, flexion finger deformity and rocker- bottom feet. There is involvement of cardiacvascular and renal system with intellectual disability. Authors report a case of Edwards syndrome presenting with failure to thrive and developmental delay in the absence of usual clinical features of Edwards syndrome.

scholarly journals A Case Report on Neonatal Bartter Syndrome and It’s Effective Management-Clinical Pharmacist Perspective

2015 ◽  
Vol 8 (3) ◽  
pp. 133-135 ◽  
Author(s):  
Kandimalla Chaitanya ◽  
Chandra Jahnavi ◽  
Yerragundla Kanthi Kiran ◽  
Apollo James ◽  
T. Raman Ashok Kumar ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Pharmacist ◽  
Bartter Syndrome ◽  
Effective Management ◽  
Neonatal Bartter Syndrome

scholarly journals Bartter Syndrome in Children; A Cause of Severe Hypokalemic Metabolic Alkalosis: Clinical Case Report and Literature Review

2020 ◽  
pp. 1-7
Author(s):  
A. Radi ◽  
M. Akhrif ◽  
M. Kmari ◽  
A. Ourrai ◽  
A. Hassani ◽  
...  
Keyword(s):  
Metabolic Alkalosis ◽  
Clinical Case ◽  
Male Infant ◽  
High Plasma ◽  
Bartter Syndrome ◽  
Thick Ascending Limb ◽  
Triangular Face ◽  
Renal Tubular Disorder ◽  
Dysmorphic Syndrome ◽  
Renal Tubular

Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle. It characterized by urinary loss of sodium, potassium, and chloride; hypokalemic metabolic alkalosis; normal blood pressure, high plasma levels of renin and aldosterone. There is phenotypical and genetic variability of Bartter syndrome since were identified five genes responsible for five different forms of Bartter syndrome. The objective of this work is to report a clinical case to study the pathophysiological, clinical, biological and therapeutic features of this syndrome. Materials and Methods: We reported a case of 04-month-old male infant admitted for acute dehydration secondary to polyuro-polydipsia syndrome and vomiting. In clinical presentation the patient had a dysmorphic syndrome with triangular face, protruding ears and flattened nasal root. Laboratory tests revealed hypokalemia, hyponatremia, metabolic alkalosis and hypercalciuria. Treatment with indomethacin was started at 1 mg/kg per day with favorable outcome.

Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease

2021 ◽  
Vol 14 (7) ◽  
pp. e242954
Author(s):  
Gargi Das ◽  
Pamali Mahasweta Nanda ◽  
Anupriya Kaur ◽  
Rakesh Kumar
Keyword(s):  
Metabolic Alkalosis ◽  
Failure To Thrive ◽  
Bartter Syndrome ◽  
Chromosome 17 ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Multisystem Disorder ◽  
Organ Systems ◽  
Rare Manifestation ◽  
Renal Tubular

Cystinosis is a multisystem disorder with varied presentations secondary to deposition of cystine crystals in different organ systems. Children with cystinosis typically present with renal tubular acidosis and failure to thrive. We report a 3-year-old girl, born to a third-degree consanguineous couple, who presented with failure to thrive and polyuria. Laboratory investigations showed metabolic alkalosis suggestive of a Bartter-like syndrome and acquired hypothyroidism. Although metabolic alkalosis is a rare manifestation of cystinosis, the presence of renal tubular dysfunction and hypothyroidism prompted consideration of a probable diagnosis of cystinosis in the index child. Slit-lamp examination revealed cystine crystals in the cornea and genetic analysis showed a mutation in exon 9 of the CTNS (cystinosin, lysosomal cystine transporter) gene on chromosome 17. We highlight the importance of considering cystinosis as a differential diagnosis for Bartter syndrome and hypothyroidism.

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

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